Results 151 to 160 of about 19,213 (227)

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings. [PDF]

Cureus
Almarzooqi S, Salvo F.
europepmc   +1 more source

Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence. [PDF]

Clin Cosmet Investig Dermatol
Fryze M, Pietrzak A.
europepmc   +1 more source

Expanding the Clinical Spectrum of KIDAR Syndrome: A Case of Multisystemic Involvement in a Palestinian Child with AP1B1 Deficiency. [PDF]

Sage Open Pediatr
Issa K, Dawoud AMY, Khader ZWR, Alem A, Abulail MSZ, Shakhshir A, Dawoud RWJ.   +6 more
europepmc   +1 more source

Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]

JAAD Int
Blanco-Calvo N, Núñez-Reiz A, Vals-Ferrán I, Malhotra R, Hernández-Martín A.   +4 more
europepmc   +1 more source

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +1 more source

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. [PDF]

Clin Exp Pediatr
Ghosh U, Agrawal A, Srinivasan VM, Manisha R, Shukla U, Jain V, Nilay M, Kumar H.   +7 more
europepmc   +1 more source